Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00422:H2-M5'

3851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2-M5

Ensembl Gene

ENSMUSG00000024459

Gene Name

histocompatibility 2, M region locus 5

Synonyms

D130003B22Rik, H-2M5, CRW2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

37294953-37300429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37298732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 238 (I238T)

Ref Sequence

ENSEMBL: ENSMUSP00000131365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169189]

AlphaFold

A7VMS3

Predicted Effect

unknown
Transcript: ENSMUST00000113667
AA Change: I67T

SMART Domains

Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
AA Change: I67T

Domain	Start	End	E-Value	Type
IGc1	53	124	1.26e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145260

Predicted Effect

probably damaging
Transcript: ENSMUST00000169189
AA Change: I238T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: I238T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.4e-69	PFAM
IGc1	223	294	1.26e-18	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176712
AA Change: I207T

SMART Domains

Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: I207T

Domain	Start	End	E-Value	Type
Pfam:MHC_I	1	174	7.5e-66	PFAM
IGc1	193	264	1.26e-18	SMART
transmembrane domain	278	300	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176784
AA Change: I207T

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Adam34l	A	G	8: 44,079,388 (GRCm39)	F279L	probably damaging	Het
Ajuba	A	T	14: 54,809,226 (GRCm39)	Y400*	probably null	Het
Cckar	T	A	5: 53,857,171 (GRCm39)	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,803,260 (GRCm39)	V253A	probably benign	Het
Cep162	T	C	9: 87,109,220 (GRCm39)	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106 (GRCm39)	E2399K	probably damaging	Het
Cln8	G	A	8: 14,946,637 (GRCm39)	C217Y	probably benign	Het
Dchs1	A	G	7: 105,407,236 (GRCm39)	V2119A	possibly damaging	Het
Dhx33	T	C	11: 70,892,446 (GRCm39)	S108G	probably benign	Het
Dip2a	T	A	10: 76,149,070 (GRCm39)	M194L	probably benign	Het
Dnah11	T	C	12: 118,031,831 (GRCm39)	K1779R	probably damaging	Het
Fads3	T	G	19: 10,033,045 (GRCm39)	F328V	possibly damaging	Het
Flad1	A	G	3: 89,313,160 (GRCm39)		probably null	Het
Gm7535	G	T	17: 18,132,150 (GRCm39)		probably benign	Het
Gnpat	A	G	8: 125,611,752 (GRCm39)	E513G	probably damaging	Het
Hoxd12	G	A	2: 74,505,771 (GRCm39)	R114Q	probably damaging	Het
Ide	T	C	19: 37,253,931 (GRCm39)	I903V	unknown	Het
Ifi209	T	G	1: 173,466,529 (GRCm39)	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,367,894 (GRCm39)	D248G	probably damaging	Het
Mat2b	C	A	11: 40,578,565 (GRCm39)	G41C	probably damaging	Het
Mfsd4a	T	C	1: 131,968,332 (GRCm39)	I369V	probably benign	Het
Myom1	T	A	17: 71,433,093 (GRCm39)	V1480E	probably damaging	Het
Myom2	A	T	8: 15,119,490 (GRCm39)	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,496,635 (GRCm39)	V422E	probably damaging	Het
Pkn3	G	A	2: 29,971,116 (GRCm39)	A228T	probably damaging	Het
Rad17	A	T	13: 100,766,033 (GRCm39)	I365K	probably benign	Het
Rad17	A	T	13: 100,766,031 (GRCm39)	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,106,743 (GRCm39)	C15G	probably benign	Het
Spag9	T	A	11: 93,988,692 (GRCm39)	F571I	probably benign	Het
Ttc27	T	A	17: 75,087,811 (GRCm39)	C459S	probably damaging	Het
Washc2	A	G	6: 116,233,637 (GRCm39)	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318 (GRCm39)	H490L	possibly damaging	Het

Other mutations in H2-M5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02870:H2-M5	APN	17	37,299,925 (GRCm39)	missense	probably benign	0.00
R0106:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R0361:H2-M5	UTSW	17	37,298,328 (GRCm39)	missense	possibly damaging	0.68
R0676:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R0678:H2-M5	UTSW	17	37,300,034 (GRCm39)	missense	possibly damaging	0.95
R4594:H2-M5	UTSW	17	37,298,697 (GRCm39)	missense	possibly damaging	0.53
R4816:H2-M5	UTSW	17	37,300,309 (GRCm39)	unclassified	probably benign
R5071:H2-M5	UTSW	17	37,298,076 (GRCm39)	critical splice acceptor site	probably null
R7070:H2-M5	UTSW	17	37,300,051 (GRCm39)	missense	possibly damaging	0.95
R7489:H2-M5	UTSW	17	37,300,363 (GRCm39)	missense	unknown
R7641:H2-M5	UTSW	17	37,298,323 (GRCm39)	missense	probably benign
R7908:H2-M5	UTSW	17	37,298,571 (GRCm39)	missense	probably benign	0.13
R8958:H2-M5	UTSW	17	37,299,520 (GRCm39)	missense	probably damaging	1.00
R9038:H2-M5	UTSW	17	37,299,422 (GRCm39)	missense	possibly damaging	0.86

Posted On

2012-04-20